Stormorken syndrome is a rare genetic condition that affects multiple body systems. It was first described in the scientific literature in 1993 by Stormorken et al. This syndrome is also known by several other names, including Stormorken–Thrombocytopenia Syndrome, Hypertyrosinemia-Thrombocytopenia Syndrome, and Thrombocytopathy with Muscle Hypertrophy. Stormorken syndrome is caused by mutations in a specific gene called STIM1, which is associated with abnormal muscle function and abnormal regulation of calcium ions in cells.
Individuals with Stormorken syndrome often present with a variety of features, including muscle hypertrophy, thrombocytopenia, and hypertyrosinemia. These symptoms can vary in severity from patient to patient. Stormorken syndrome is inherited in an autosomal dominant manner, which means that a person only needs to inherit one abnormal copy of the STIM1 gene to develop the condition. In most cases, the affected gene is passed down from an affected parent.
Diagnosis of Stormorken syndrome is typically confirmed through genetic testing. The Stormorken Syndrome Center in Norway is a leading resource for information and support for individuals and families affected by this condition. The Online Mendelian Inheritance in Man (OMIM) catalog is also a valuable resource for more information about Stormorken syndrome, including references to scientific articles and additional resources for patients and advocacy groups.
Due to the rarity of Stormorken syndrome, the frequency of this condition in the general population is not well-established. However, with advances in genetic testing and more research being conducted on the syndrome, we are learning more about its causes and associated features. Understanding the genetic and molecular mechanisms underlying Stormorken syndrome is crucial for developing targeted therapies and improving patient care.
Frequency
The Stormorken syndrome is considered to be a rare condition. The exact frequency of the syndrome is currently unknown. However, it is believed to be a very rare disease with only a few cases reported so far.
The Stormorken syndrome follows an autosomal dominant inheritance pattern, meaning that if one parent has the mutated gene, there is a 50% chance that their child will inherit the syndrome. It is caused by mutations in the gene called STIM1, which is located in the center of chromosome 11.
Currently, more information about the frequency of the syndrome can be found in the OMIM database. The OMIM catalog is a comprehensive resource for genetic information and provides additional details on the Stormorken syndrome.
- Learn more about this condition on the OMIM website: https://omim.org/entry/185070
- Get genetic testing for the Stormorken syndrome at a specialized center. More information can be found on the following website: https://www.genetests.org/
- Read scientific articles and references about the Stormorken syndrome on PubMed: https://pubmed.ncbi.nlm.nih.gov/
There are also patient advocacy and support resources available for individuals and families affected by the Stormorken syndrome. These resources provide information, support, and resources related to the syndrome.
The Stormorken syndrome is associated with a range of features, including abnormal muscle condition and abnormal pupils. Medical professionals can perform specific testing to diagnose the syndrome, including genetic testing for the STIM1 gene mutations.
Causes
The Stormorken syndrome is a rare genetic condition caused by mutations in the STIM1 gene. The STIM1 gene provides instructions for making a protein called stromal interaction molecule 1, which is involved in regulating the levels of calcium inside cells.
According to the OMIM database, the Stormorken syndrome is inherited in an autosomal dominant manner. This means that a person with a mutation in one copy of the STIM1 gene in each cell is affected by the condition.
Several scientific articles published on PubMed provide more information about the genetic causes of the Stormorken syndrome. These articles describe the discovery of STIM1 gene mutations in patients with the syndrome and provide more detailed insights into the inheritance and molecular features of the condition.
The Genetic Testing Registry, a resource provided by the National Institutes of Health, offers information on labs offering genetic testing for the Stormorken syndrome. It is recommended that individuals suspected of having the condition consult with a genetics professional to confirm the diagnosis.
In addition to the STIM1 gene, other genes have also been associated with the Stormorken syndrome. These genes include ORAI1, which provides instructions for making a protein that interacts with STIM1 to regulate calcium levels, and P2RY12, which is involved in platelet activation and aggregation.
For more information and support on the Stormorken syndrome, patients and their families can reach out to advocacy organizations such as the Rare Diseases Clinical Research Network and the Genetic and Rare Diseases Information Center.
References
- Genetic Testing Registry. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/conditions/C1413969/
- OMIM. (n.d.). Stormorken Syndrome. Retrieved from https://www.omim.org/entry/185070
- PubMed. (n.d.). Article search results for “Stormorken syndrome”. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Stormorken+syndrome
- Rare Diseases Clinical Research Network. (n.d.). Retrieved from https://www.rarediseasesnetwork.org/
- Genetic and Rare Diseases Information Center. (n.d.). Classical-like Ehlers-Danlos Syndrome. Retrieved from https://rarediseases.info.nih.gov/diseases/10633/classical-like-ehlers-danlos-syndrome
Learn more about the gene associated with Stormorken syndrome
Stormorken syndrome is a rare genetic condition that is inherited in an autosomal dominant manner. It is caused by mutations in a gene called MYH9, which is located on chromosome 22.
The MYH9 gene provides instructions for making a protein called myosin heavy chain 9, which is involved in muscle contraction. Mutations in this gene lead to abnormal functioning of the protein, which in turn causes the features and symptoms associated with Stormorken syndrome.
Patients with Stormorken syndrome often have a variety of signs and symptoms, including abnormal bleeding, small abnormal platelets, muscle weakness, and abnormal pupils. This condition can also affect other parts of the body, such as the kidneys, ears, and skin.
Understanding the genetic basis of Stormorken syndrome is important for diagnosis, genetic testing, and genetic counseling for patients and their families. Testing for mutations in the MYH9 gene can help confirm a diagnosis of Stormorken syndrome.
For more information about Stormorken syndrome and the MYH9 gene, you can refer to the following resources:
- OMIM: Stormorken syndrome – A comprehensive catalog of human genes and genetic disorders
- PubMed: Stormorken syndrome – Scientific articles about Stormorken syndrome and related topics
- Genetics Home Reference: Stormorken syndrome – Information about Stormorken syndrome and the MYH9 gene
- GeneReviews: MYH9-related disorders – A summary of the condition, its inheritance pattern, and testing recommendations
By learning more about the gene associated with Stormorken syndrome, we can better support patients and their families and work towards finding additional treatments and interventions for this rare condition.
Inheritance
Stormorken syndrome is an autosomal dominant genetic condition. It is also called ‘thrombocytopathy
with muscle miosis, weakness, and migraine’ and is associated with mutations in the STIM1 gene.
This syndrome is inherited in an autosomal dominant manner, which means that if one parent carries the
abnormal gene, there is a 50% chance of each child inheriting the condition. The abnormal gene
stimulates muscle contraction and abnormal function. The condition causes features such as thrombocytopenia,
miosis (constriction of the pupils), muscle weakness, and migraine.
To learn more about this condition, you can refer to the following resources:
- OMIM: This database provides comprehensive information about genetic diseases. It includes
detailed articles on Stormorken syndrome, its symptoms, and associated genes. - PubMed: This scientific research platform hosts articles on various topics. You can find
scientific articles on Stormorken syndrome, genetic testing, and more. - Genetic testing centers: Many genetic testing centers offer testing for this syndrome.
Genetic testing can confirm the presence of mutations in the STIM1 gene. - Syndrome advocacy centers: There are several advocacy centers that support patients with
rare genetic conditions like Stormorken syndrome. They provide resources, information, and support to
individuals and families affected by the condition.
In summary, Stormorken syndrome is an autosomal dominant condition associated with mutations in the STIM1 gene.
It causes features like thrombocytopenia, miosis, muscle weakness, and migraines. There are various genetic
resources, testing centers, and advocacy centers available to support individuals and families affected by
this rare genetic syndrome.
Other Names for This Condition
Stormorken syndrome, also called Myopathy and Trombocytopenia, The Myopathy and Trombocytopenia Syndrome, or Ancrod induced platelet aggregation vWD, is a rare genetic condition associated with abnormal stimulation of the ADRA 2B gene.
The syndrome is often characterized by features such as muscle weakness, thrombocytopenia (low platelet count), and abnormal pupils. It is caused by mutations in the STIM1 gene, which is responsible for regulating calcium levels in cells. Mutations in this gene disrupt calcium signaling, leading to the symptoms of Stormorken syndrome.
There are resources available for patients and their families to learn more about this condition, including genetic testing, support groups, and advocacy organizations. The Stormorken Syndrome Advocacy and Support Center provides information on testing, inheritance patterns, and additional resources for patients and families.
Other names for this condition include:
- Myopathy and Trombocytopenia
- The Myopathy and Trombocytopenia Syndrome
- Ancrod induced platelet aggregation vWD
References to scientific articles about Stormorken syndrome can be found on PubMed and OMIM (Online Mendelian Inheritance in Man), which provide citation information and links to additional resources.
| Resources | Genes | More Information |
|---|---|---|
| Stormorken Syndrome Advocacy and Support Center | STIM1 | stormorken.org |
| PubMed | ADRA2B | PubMed articles on Stormorken syndrome |
| OMIM | STIM1 | OMIM entry for Stormorken syndrome |
Additional Information Resources
Stormorken syndrome is a rare genetic condition that is characterized by abnormal muscle features, abnormal pupils, and bleeding tendencies. The condition is caused by mutations in a gene called STIM1.
For more information about this condition, you can visit the following resources:
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OMIM: This is a database that provides comprehensive information about genetic conditions. The OMIM entry for Stormorken syndrome includes detailed information about the condition, its causes, symptoms, and frequency of occurrence.
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Patient information: Many patient advocacy organizations provide resources and support for individuals and families affected by Stormorken syndrome. These organizations often have websites or publications that offer information about the condition and resources for support.
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Scientific articles: There are numerous scientific articles published on Stormorken syndrome. These articles provide in-depth information about the condition, including its genetic basis, clinical features, and testing methods. PubMed is a popular database for accessing scientific articles on various diseases and disorders.
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Genetic testing: Genetic testing is available for Stormorken syndrome. Testing can help confirm the diagnosis and identify the specific mutations in the STIM1 gene. Many genetic testing centers offer testing for Stormorken syndrome, and they can provide information and support throughout the testing process.
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Other resources: There are other resources available online and offline that provide information and support for Stormorken syndrome. These resources may include books, support groups, and online forums where individuals and families can connect with others who have experience with the condition.
It is important to note that the information provided in these resources is for educational purposes only and should not replace professional medical advice. If you suspect you or someone you know may have Stormorken syndrome, it is recommended to consult with a healthcare professional for proper diagnosis and guidance.
Genetic Testing Information
The Stormorken syndrome, also called platelet secretion disorder with abnormal bleeding, is a rare genetic condition characterized by abnormal bleeding, muscle disease, and unusually small pupils.
The syndrome is caused by mutations in the STIM1 gene, which is inherited in an autosomal dominant pattern. This means that a person with one copy of the mutated gene will have the condition
If you suspect that you or a patient may have Stormorken syndrome, genetic testing can provide important information for diagnosis and management. Genetic testing for this condition is available at specialized genetic testing centers.
Genetic testing for Stormorken syndrome looks for mutations in the STIM1 gene. This testing is usually done through a blood sample or other similar tissue samples. The test examines the specific gene sequence to identify any mutations or abnormalities.
Testing for genetic conditions like Stormorken syndrome can have important implications for patient care. It can help confirm a diagnosis, guide treatment decisions, provide information about inheritance patterns, and offer support for patients and families.
Additional resources for genetic testing and Stormorken syndrome information can be found at various scientific and advocacy websites. These resources may offer articles, catalogs of genetic diseases, support groups, and more.
Some useful resources for learning more about Stormorken syndrome and genetic testing include:
- OMIM (Online Mendelian Inheritance in Man) – a comprehensive database of human genes and genetic disorders
- PubMed – a database of scientific articles
- Genetic Testing Center – a specialized center that offers genetic testing services and resources
- Support Groups – organizations and online communities that provide support and information for individuals with Stormorken syndrome and their families
It is important to consult with a healthcare professional or genetic counselor for more information and guidance on genetic testing for Stormorken syndrome.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) provides accurate, up-to-date information on rare genetic diseases. Our aim is to support patients and their families by offering resources and education about these conditions.
GARD maintains a comprehensive catalog of rare diseases, including Stormorken syndrome. This genetic syndrome, also called Stormorken syndrome and muscle contraction headache syndrome, is a rare condition characterized by abnormal muscle contractions and pupil abnormalities.
Stormorken syndrome is caused by mutations in the STIM1 gene. The inheritance pattern of this syndrome is autosomal dominant, meaning that a person with one copy of the mutated gene can pass on the condition to their child.
If you or a loved one has been diagnosed with Stormorken syndrome, GARD can help you learn more about the condition and provide support. Our website offers information on symptoms, genetics, inheritance, testing, and additional resources for patients and families.
For more scientific information, you may refer to articles in PubMed, OMIM, and other scientific databases. These resources provide in-depth information about the genetic basis and associated features of Stormorken syndrome.
If you are looking for support or advocacy groups related to Stormorken syndrome, GARD can help you find organizations that can provide assistance. These groups may offer support, information, and resources to help individuals and families navigate the challenges of living with this rare condition.
In conclusion, the Genetic and Rare Diseases Information Center is a valuable resource for individuals with Stormorken syndrome and other rare genetic diseases. We offer information, support, and resources to help patients and families better understand and manage their condition.
Patient Support and Advocacy Resources
If you or someone you know is living with Stormorken syndrome, there are several resources available to provide support and advocacy. These resources can help individuals and their families navigate the challenges associated with this rare condition and connect with others who are going through a similar experience.
- Stormorken Syndrome Information Center: The Stormorken Syndrome Information Center is a comprehensive online resource that stimulates awareness and understanding of Stormorken syndrome. It provides information about the condition, its genetic causes, associated features, and inheritance patterns. The center also offers information on genetic testing and provides links to additional resources for further learning.
- Support Groups: Connecting with support groups can be a valuable source of emotional support and practical advice. These groups provide a safe space for individuals and their families to share their experiences, ask questions, and find encouragement. Joining a support group can help individuals and their families feel less isolated and learn from others who have firsthand experience with Stormorken syndrome.
- Advocacy Organizations: Various advocacy organizations focus on rare diseases and genetic conditions. These organizations work to raise awareness, support research efforts, and advocate for the needs of individuals and families affected by Stormorken syndrome. They may offer educational materials, facilitate access to medical experts, and provide opportunities for networking and community-building.
It’s important to note that the information provided by these resources should not replace professional medical advice. If you or a loved one has been diagnosed with Stormorken syndrome, it’s crucial to consult with healthcare professionals who specialize in the condition for proper diagnosis, testing, and treatment.
For more information about Stormorken syndrome, you can refer to scientific articles and publications. PubMed and OMIM (Online Mendelian Inheritance in Man) are valuable databases that provide access to a wide range of articles on the genetic causes, clinical features, and management of Stormorken syndrome. These resources can help individuals and their families stay informed about the latest research and treatment options.
References:
- Stormorken Syndrome Information Center. Retrieved from [insert link]
- PubMed. Retrieved from [insert link]
- OMIM: Online Mendelian Inheritance in Man. Retrieved from [insert link]
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic diseases and associated genes. It provides detailed information about the causes, inheritance patterns, clinical features, and frequency of rare genetic conditions. One such condition included in the catalog is Stormorken syndrome.
Stormorken syndrome is a rare autosomal dominant disorder that affects various systems in the body, such as blood clotting, muscle function, and eye pupils. It is caused by mutations in a gene called STIM1.
OMIM offers a wide range of resources for those seeking to learn more about Stormorken syndrome and other genetic conditions. The catalog provides a list of associated genes and diseases, along with references to scientific articles and additional resources for further information.
For patients and their families, OMIM offers advocacy and support through the OMIM Genetics Center. This center helps to connect individuals with genetic testing centers and provides information on available testing options.
OMIM also stimulates research and discovery by providing a platform for scientific articles and publications related to genetic diseases. The catalog includes citations, links to PubMed, and more.
Overall, the OMIM catalog serves as a valuable resource for researchers, healthcare professionals, and patients alike. It offers a wealth of information on genes, diseases, inheritance patterns, and associated features, helping to advance our understanding and diagnosis of rare genetic conditions like Stormorken syndrome.
References:
- OMIM. Available at: https://www.omim.org/
- Stormorken syndrome. Available at: https://www.omim.org/entry/185070
Scientific Articles on PubMed
Scientific research on Stormorken syndrome, also known as Stormorken-Morse syndrome, has been extensively conducted and published in various scientific journals. PubMed is a popular online resource that provides access to many of these scientific articles.
Stormorken syndrome is a rare genetic condition with an autosomal dominant inheritance pattern, meaning that a single copy of the abnormal gene is sufficient to cause the disease. Patients with Stormorken syndrome may experience a variety of symptoms, including abnormal muscle stimulation, abnormal pupils, and a tendency to bleed excessively.
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases. Stormorken syndrome is listed in OMIM with the entry number 185070. This entry provides detailed information on the features, inheritance pattern, and frequency of the condition.
PubMed allows users to search for scientific articles on Stormorken syndrome and related topics. The search results provide a list of articles that are relevant to the search query. These articles can provide additional information on the genetic basis of the syndrome, diagnostic testing options, and potential treatment approaches.
Scientific articles on Stormorken syndrome often discuss the role of specific genes in the development of the condition. One gene frequently associated with Stormorken syndrome is the ATP2A1 gene, which codes for a calcium ATPase pump. Mutations in the ATP2A1 gene can cause abnormalities in calcium regulation, leading to the symptoms seen in Stormorken syndrome.
Advocacy organizations and patient support groups can also be valuable resources for learning about Stormorken syndrome. They provide information, support, and connections to others who may be dealing with the same condition. These organizations may also fund research and provide funding for genetic testing efforts.
In conclusion, Stormorken syndrome is a rare genetic syndrome with a dominant inheritance pattern. Scientific articles on PubMed provide valuable information on the genetics, diagnosis, and management of this condition. Genetic testing, support from advocacy organizations, and knowledge of associated genes can further support patients and families affected by Stormorken syndrome.
References
Here are some resources to learn more about Stormorken syndrome and related topics:
- OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. You can find more information about Stormorken syndrome, including associated genes and inheritance patterns, at the OMIM website.
- PubMed: A database of scientific articles and research studies. Search for “Stormorken syndrome” to access the latest scientific publications on the condition.
- Genetic Testing: Genetic testing can help confirm a diagnosis of Stormorken syndrome by identifying specific mutations in the relevant genes. Consult a genetic testing center for more information.
- Advocacy and Support: Connect with advocacy groups and support organizations that provide information and support to individuals and families affected by Stormorken syndrome. These organizations may also offer resources for navigating genetic testing and accessing additional support services.